Identification of three novel mutations in the CFTR gene, R117P, deltaD192, and 3121-1G-->A in four French patients.
Feldmann
D
D
Laboratoire de Biochimie, Service de Gastro-Entérologie Pédiatrique, Hôpital Armand Trousseau, Paris, France.
Sardet
A
A
Cougoureux
E
E
Plouvier
E
E
Fontaine
J L
JL
Tournier
G
G
Aymard
P
P
D000293:Adolescent; D019943:Amino Acid Substitution; D001483:Base Sequence; D002648:Child; D002675:Child, Preschool; D003550:Cystic Fibrosis / Q000235:genetics*; D019005:Cystic Fibrosis Transmembrane Conductance Regulator / Q000235:genetics*; D004247:DNA / Q000737:chemistry / Q000235:genetics; D004252:DNA Mutational Analysis; D005260:Female; D005602:France; D006801:Humans; D008297:Male; D009154:Mutation; D017354:Point Mutation; D017384:Sequence Deletion
C505032:CFTR protein, human; D019005:Cystic Fibrosis Transmembrane Conductance Regulator; D004247:DNA